Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

Morquio B disease (MBD) is an ultra-rare lysosomal storage disease, which represents the relatively mild form of GLB1-associated disorders. In this article, we present the unique case of “pure” MBD associated with an insertion of the mobile genetic element from the class of retrotransposons. Using w...

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Detalles Bibliográficos
Autores principales: Bychkov, Igor, Kuznetsova, Antonina, Baydakova, Galina, Gorobets, Leonid, Kenis, Vladimir, Dimitrieva, Alena, Filatova, Alexandra, Tabakov, Vyacheslav, Skoblov, Mikhail, Zakharova, Ekaterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9325892/
https://www.ncbi.nlm.nih.gov/pubmed/35882863
http://dx.doi.org/10.1038/s41525-022-00315-y

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